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| DDG2P v3.12 | HMGCL | Achchuthan Shanmugasundram reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: ; Publications: 11129331, 9463337, 8617516; Phenotypes: 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY, OMIM:246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HMGCL | Achchuthan Shanmugasundram Publications for gene: HMGCL were updated from 9463337; 8617516; 11129331 to 11129331; 9463337; 8617516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HMGCL | Rebecca Foulger reviewed gene: HMGCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HMGCL |
Rebecca Foulger gene: HMGCL was added gene: HMGCL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCL were set to 9463337; 8617516; 11129331 Phenotypes for gene: HMGCL were set to 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY 246450 |
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